人 APTX (NM_175073) cDNA克隆

Accession: NM_175073
基因名称: APTX
基因别名: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
基因描述: Homo sapiens aprataxin (APTX), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1029 (查看编码区序列)
翻译后氨基酸长度: 342 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 7 encode the same isoform (a).
产品编号 产品名称 载体 规格 价格
G107805 人 APTX (NM_175073) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]